Document Detail


Birt-Hogg-Dubé syndrome: clinicopathologic findings and genetic alterations.
MedLine Citation:
PMID:  17149965     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
CONTEXT: Birt-Hogg-Dubé (BHD) syndrome is a rare clinicopathologic condition transmitted in an autosomal dominant fashion. This complex entity is characterized by cutaneous fibrofolliculomas, kidney tumors, pulmonary cysts, and spontaneous pneumothorax. Recently, the gene possibly responsible for the clinical manifestations of BHD syndrome has been cloned and characterized. The few reviews of BHD syndrome found in the English literature mostly focus on the skin lesions or genetics, with limited information on other pathologic changes, particularly the kidney lesions. OBJECTIVE: To review the literature on this subject with a special emphasis on BHD syndrome-associated renal pathology as well as recent advances in molecular genetic discovery of the BHD syndrome. DATA SOURCES: We used all data available after performing a literature search using MEDLINE and searching under the headings "Birt-Hogg-Dubé," "hybrid oncocytic tumors," and "folliculin." CONCLUSIONS: The presence of BHD syndrome should be investigated in any patient with multiple bilateral kidney tumors, especially if the predominant histologic type is chromophobe renal cell carcinoma or the so-called hybrid oncocytic tumor. The genetic alteration for BHD syndrome has been mapped to chromosome 17p12q11, and the gene in this region has been cloned and believed to be responsible for the BHD syndrome. The function of the BHD product, called folliculin, is still unknown, although it is speculated to be a tumor suppressor gene. Numerous mutations have been described in the BHD gene. Studies are ongoing to determine the relationship between the BHD gene and development of sporadic renal cell carcinoma and other lesions.
Authors:
Brian P Adley; Norm D Smith; Ritu Nayar; Ximing J Yang
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Archives of pathology & laboratory medicine     Volume:  130     ISSN:  1543-2165     ISO Abbreviation:  Arch. Pathol. Lab. Med.     Publication Date:  2006 Dec 
Date Detail:
Created Date:  2006-12-07     Completed Date:  2006-12-22     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7607091     Medline TA:  Arch Pathol Lab Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1865-70     Citation Subset:  AIM; IM    
Affiliation:
Department of Pathology, Northwestern University, Feinberg School of Medicine, Chicago, IL 60611, USA.
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MeSH Terms
Descriptor/Qualifier:
Carcinoma, Renal Cell / genetics,  pathology*
Chromosomes, Human, Pair 17
Humans
Kidney Neoplasms / genetics,  pathology*
Mutation
Neoplasms, Multiple Primary / genetics,  pathology*
Proteins / genetics
Proto-Oncogene Proteins / genetics
Skin Neoplasms / genetics,  pathology*
Syndrome
Tumor Suppressor Proteins / genetics
Chemical
Reg. No./Substance:
0/FLCN protein, human; 0/Proteins; 0/Proto-Oncogene Proteins; 0/Tumor Suppressor Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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